Associated Papers
Spinocerebellar ataxia 38: structure-function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot.
Ferrero E et al.
Human Genetics, 2023
Elovl5 Expression in the Central Nervous System of the Adult Mouse.
Balbo I et al.
Frontiers in Neuroanatomy, 2021
Contributions to the study of spinocerebellar ataxia type 38 (SCA38).
Gazulla J et al.
Journal of Neurology, 2020
Novel Cellular Functions of Very Long Chain-Fatty Acids: Insight From ELOVL4 Mutations.
Deák F et al.
Frontiers in Cellular Neuroscience, 2019
A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies.
Coutelier M et al.
Brain : a Journal of Neurology, 2017
SCA38 is rare in Mainland China.
Liu Z et al.
Journal of the Neurological Sciences, 2015
ELOVL5 mutations cause spinocerebellar ataxia 38.
Di Gregorio E et al.
American Journal of Human Genetics, 2014
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